Rauch A - Search Results

1

Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development.

Cisse B, Caton ML, Lehner M, Maeda T, Scheu S, Locksley R, Holmberg D, Zweier C, den Hollander NS, Kant SG, Holter W, Rauch A, Zhuang Y, Reizis B. Cisse B, et al. Among authors: rauch a. Cell. 2008 Oct 3;135(1):37-48. doi: 10.1016/j.cell.2008.09.016. Cell. 2008. PMID: 18854153 Free PMC article.

2

Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease.

Horn D, Weschke B, Zweier C, Rauch A. Horn D, et al. Among authors: rauch a. Am J Med Genet A. 2004 Jan 1;124A(1):102-4. doi: 10.1002/ajmg.a.20298. Am J Med Genet A. 2004. PMID: 14679597 No abstract available.

3

Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.

Zweier C, Horn D, Kraus C, Rauch A. Zweier C, et al. Among authors: rauch a. Am J Med Genet A. 2006 Apr 15;140(8):869-72. doi: 10.1002/ajmg.a.31196. Am J Med Genet A. 2006. PMID: 16532472 Review.

4

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.

Zweier C, Sticht H, Aydin-Yaylagül I, Campbell CE, Rauch A. Zweier C, et al. Among authors: rauch a. Am J Hum Genet. 2007 Mar;80(3):510-7. doi: 10.1086/511993. Epub 2007 Jan 18. Am J Hum Genet. 2007. PMID: 17273972 Free PMC article.

5

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A. Zweier C, et al. Among authors: rauch a. Am J Hum Genet. 2007 May;80(5):994-1001. doi: 10.1086/515583. Epub 2007 Mar 23. Am J Hum Genet. 2007. PMID: 17436255 Free PMC article.

6

A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome.

Zweier C, Trautmann U, Ekici A, Rauch A. Zweier C, et al. Among authors: rauch a. Eur J Med Genet. 2008 Jul-Aug;51(4):358-61. doi: 10.1016/j.ejmg.2008.01.005. Epub 2008 Feb 8. Eur J Med Genet. 2008. PMID: 18342594

7

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

Zweier C, Sticht H, Bijlsma EK, Clayton-Smith J, Boonen SE, Fryer A, Greally MT, Hoffmann L, den Hollander NS, Jongmans M, Kant SG, King MD, Lynch SA, McKee S, Midro AT, Park SM, Ricotti V, Tarantino E, Wessels M, Peippo M, Rauch A. Zweier C, et al. Among authors: rauch a. J Med Genet. 2008 Nov;45(11):738-44. doi: 10.1136/jmg.2008.060129. Epub 2008 Aug 26. J Med Genet. 2008. PMID: 18728071

8

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.

Steinbusch CV, van Roozendaal KE, Tserpelis D, Smeets EE, Kranenburg-de Koning TJ, de Waal KH, Zweier C, Rauch A, Hennekam RC, Blok MJ, Schrander-Stumpel CT. Steinbusch CV, et al. Among authors: rauch a. Clin Genet. 2013 Jan;83(1):73-7. doi: 10.1111/j.1399-0004.2012.01857.x. Epub 2012 Mar 15. Clin Genet. 2013. PMID: 22335494

9

"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.

Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A. Zweier C, et al. Among authors: rauch a. Am J Med Genet. 2002 Mar 15;108(3):177-81. Am J Med Genet. 2002. PMID: 11891681

10

Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.

Cerruti Mainardi P, Pastore G, Zweier C, Rauch A. Cerruti Mainardi P, et al. Among authors: rauch a. J Med Genet. 2004 Feb;41(2):e16. doi: 10.1136/jmg.2003.009548. J Med Genet. 2004. PMID: 14757866 Free PMC article. No abstract available.

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